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Matthew N Bainbridge

Showing results (61-70 of 67) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative geneMir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge, et al.
Journal of the National Cancer Institute|December 9, 2014
Germline mutations in shelterin complex genes are associated with familial gliomaMatthew N Bainbridge, Georgina N Armstrong, M Monica Gramatges, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
Nature Genetics|March 14, 2017
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humansHsiang-Chih Lu, Qiumin Tan, Maxime W C Rousseaux, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.
Science Advances|April 28, 2023
The genomic landscape of familial gliomaDong-Joo Choi, Georgina Armstrong, Brittney Lozzi, et al.
Pageof 7

Showing results (61-70 of 67) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 67 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative geneMir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge, et al.
Journal of the National Cancer Institute|December 9, 2014
Germline mutations in shelterin complex genes are associated with familial gliomaMatthew N Bainbridge, Georgina N Armstrong, M Monica Gramatges, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
Nature Genetics|March 14, 2017
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humansHsiang-Chih Lu, Qiumin Tan, Maxime W C Rousseaux, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.
Science Advances|April 28, 2023
The genomic landscape of familial gliomaDong-Joo Choi, Georgina Armstrong, Brittney Lozzi, et al.
Pageof 7